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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-05-2015
Symbol ARCL3B
Location 17q25.3
Name cutis laxa, autosomal recessive, type IIIB
Other name(s) De Barsy syndrome
Corresponding gene PYCR1
Main clinical features
  • characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa
  • wide fontanels, prominent forehead, fine and sparse hair, splayed eyebrows, sunken eyes, small palpebral fissures, hypertelorism, osteoporosis, mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease